chr1:156137237:G>C Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,107,028-156,107,028 View the variant detail on this assembly version.
hg38 chr1:156,137,237-156,137,237

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1365+5G>C
NM_001282626.1:c.1608+5G>C
NM_170707.3:c.1608+5G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 150330 OMIM
HGNC 6636 HGNC
Ensembl ENSG00000160789 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2000-05-22 no assertion criteria provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant germline Detail
Pathogenic no assertion criteria provided not provided germline not provided Detail
Pathogenic 2017-09-14 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1608+5G>C AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar Detail
NM_170707.4(LMNA):c.1608+5G>C AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1608+5G>C AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267607539 dbSNP
Genome
hg38
Position
chr1:156,137,237-156,137,237
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser